The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology

Lignende værker

• A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach
  af: Pinto, Irene Plaza, et al.
  Udgivet: (2014)
• Screening for Intellectual Disability Using High-Resolution CMA Technology in a Retrospective Cohort from Central Brazil
  af: Pereira, Rodrigo Roncato, et al.
  Udgivet: (2014)
• Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications
  af: Lindgren, Valerie, et al.
  Udgivet: (2015)
• Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report
  af: Pinto, Irene Plaza, et al.
  Udgivet: (2018)
• Copy Number Gain at Xq28 in a Child with Global Developmental Delay Associated with a Variant Form of Hoyeraal-Hreidarsson Syndrome
  af: Gonçalves Ramos, Lélia L., et al.
  Udgivet: (2019)